BRAF as a melanoma susceptibility candidate gene?

Karine Laud; Caroline Kannengiesser; Marie Francoise Avril; Agnès Chompret; Dominique Stoppa-Lyonnet; Laurence Desjardins; Alain Eychene; Florence Demenais; P. Andry-Benzaquen; M. Baccard; B. Bachollet; N. Basset-Seguin; M. Baspeyras; P. Berthet; J. M. Bonnetblanc; P. Blanchet; F. Boitier; V. Bonadona; F. Caux; J. P. Cesarini; J. Chevrant-Breton; D. Couillet; A. M. Courouge-Dorcier; L. Demange; C. Levy; O. Dereure; M. D'Incan; M. Dore; E. Esteve; M. Frenay; V. Gaillard; I. Gorin; F. Grange; B. Guillot; P. Joly; L. Laroche; C. Lasset; D. Leroux; J. M. Limacher; M. Longy; L. Lumbroso; J. L. Michel; S. Negrier; L. Ollivaud; J. C. Ortoli; P. Robin; B. Sassolas; R. Triller; F. Truchetet; P. Vabres; L. Verne; Gilbert M. Lenoir; Brigitte Bressac-de Paillerets

BRAF as a melanoma susceptibility candidate gene?

Karine Laud, Caroline Kannengiesser, Marie Francoise Avril, Agnès Chompret, Dominique Stoppa-Lyonnet, Laurence Desjardins, Alain Eychene, Florence Demenais, P. Andry-Benzaquen, M. Baccard, B. Bachollet, N. Basset-Seguin, M. Baspeyras, P. Berthet, J. M. Bonnetblanc, P. Blanchet, F. Boitier, V. Bonadona, F. Caux, J. P. CesariniJ. Chevrant-Breton, D. Couillet, A. M. Courouge-Dorcier, L. Demange, C. Levy, O. Dereure, M. D'Incan, M. Dore, E. Esteve, M. Frenay, V. Gaillard, I. Gorin, F. Grange, B. Guillot, P. Joly, L. Laroche, C. Lasset, D. Leroux, J. M. Limacher, M. Longy, L. Lumbroso, J. L. Michel, S. Negrier, L. Ollivaud, J. C. Ortoli, P. Robin, B. Sassolas, R. Triller, F. Truchetet, P. Vabres, L. Verne, Gilbert M. Lenoir, Brigitte Bressac-de Paillerets

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Abstract

A high frequency of activating BRAF somatic mutations have been identified recently in malignant melanoma and nevi indicating that BRAF activation could be an early and critical step in the initiation of melanocytic neoplasia. To determine whether BRAF mutations could be an earlier event occurring at the germline level, we screened the entire BRAF coding region for germline mutations in 80 independent melanoma-prone families or patients with multiple primary melanoma without a familial history. We identified 13 BRAF variants, 4 of which were silent mutations in coding regions and 9 nucleotide substitutions in introns. None of these BRAF variants segregated with melanoma in the 11 melanoma families studied. Moreover, there was no significant difference in the frequency of heterozygotes for BRAF variants between melanoma cases and controls when they were compared. Our data suggest that BRAF is unlikely to be a melanoma susceptibility gene.

Original language	English
Pages (from-to)	3061-3065
Number of pages	5
Journal	Cancer Research
Volume	63
Issue number	12
Publication status	Published - 15 Jun 2003

Cite this

Laud, K., Kannengiesser, C., Avril, M. F., Chompret, A., Stoppa-Lyonnet, D., Desjardins, L., Eychene, A., Demenais, F., Andry-Benzaquen, P., Baccard, M., Bachollet, B., Basset-Seguin, N., Baspeyras, M., Berthet, P., Bonnetblanc, J. M., Blanchet, P., Boitier, F., Bonadona, V., Caux, F., ... Bressac-de Paillerets, B. (2003). BRAF as a melanoma susceptibility candidate gene? Cancer Research, 63(12), 3061-3065.

@article{f7fa86dd34384e62a5ddd0ea1af9e829,

title = "BRAF as a melanoma susceptibility candidate gene?",

abstract = "A high frequency of activating BRAF somatic mutations have been identified recently in malignant melanoma and nevi indicating that BRAF activation could be an early and critical step in the initiation of melanocytic neoplasia. To determine whether BRAF mutations could be an earlier event occurring at the germline level, we screened the entire BRAF coding region for germline mutations in 80 independent melanoma-prone families or patients with multiple primary melanoma without a familial history. We identified 13 BRAF variants, 4 of which were silent mutations in coding regions and 9 nucleotide substitutions in introns. None of these BRAF variants segregated with melanoma in the 11 melanoma families studied. Moreover, there was no significant difference in the frequency of heterozygotes for BRAF variants between melanoma cases and controls when they were compared. Our data suggest that BRAF is unlikely to be a melanoma susceptibility gene.",

author = "Karine Laud and Caroline Kannengiesser and Avril, {Marie Francoise} and Agn{\`e}s Chompret and Dominique Stoppa-Lyonnet and Laurence Desjardins and Alain Eychene and Florence Demenais and P. Andry-Benzaquen and M. Baccard and B. Bachollet and N. Basset-Seguin and M. Baspeyras and P. Berthet and Bonnetblanc, {J. M.} and P. Blanchet and F. Boitier and V. Bonadona and F. Caux and Cesarini, {J. P.} and J. Chevrant-Breton and D. Couillet and Courouge-Dorcier, {A. M.} and L. Demange and C. Levy and O. Dereure and M. D'Incan and M. Dore and E. Esteve and M. Frenay and V. Gaillard and I. Gorin and F. Grange and B. Guillot and P. Joly and L. Laroche and C. Lasset and D. Leroux and Limacher, {J. M.} and M. Longy and L. Lumbroso and Michel, {J. L.} and S. Negrier and L. Ollivaud and Ortoli, {J. C.} and P. Robin and B. Sassolas and R. Triller and F. Truchetet and P. Vabres and L. Verne and Lenoir, {Gilbert M.} and {Bressac-de Paillerets}, Brigitte",

year = "2003",

month = jun,

day = "15",

language = "English",

volume = "63",

pages = "3061--3065",

journal = "Cancer Research",

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number = "12",

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Laud, K, Kannengiesser, C, Avril, MF, Chompret, A, Stoppa-Lyonnet, D, Desjardins, L, Eychene, A, Demenais, F, Andry-Benzaquen, P, Baccard, M, Bachollet, B, Basset-Seguin, N, Baspeyras, M, Berthet, P, Bonnetblanc, JM, Blanchet, P, Boitier, F, Bonadona, V, Caux, F, Cesarini, JP, Chevrant-Breton, J, Couillet, D, Courouge-Dorcier, AM, Demange, L, Levy, C, Dereure, O, D'Incan, M, Dore, M, Esteve, E, Frenay, M, Gaillard, V, Gorin, I, Grange, F, Guillot, B, Joly, P, Laroche, L, Lasset, C, Leroux, D, Limacher, JM, Longy, M, Lumbroso, L, Michel, JL, Negrier, S, Ollivaud, L, Ortoli, JC, Robin, P, Sassolas, B, Triller, R, Truchetet, F, Vabres, P, Verne, L, Lenoir, GM & Bressac-de Paillerets, B 2003, 'BRAF as a melanoma susceptibility candidate gene?', Cancer Research, vol. 63, no. 12, pp. 3061-3065.